TAOK2 p.Asp485=
c.1455C>T · rs749999466 · VCV2164301
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0216%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.8 | GERP -2, phastCons 1 |
| Overall | ||
| CADD | 10.35 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0216%
Admixed American · 11/50,886 alleles
Filtering AF
0.0121%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00933%
Overall
0.00175%
27/1,542,668 alleles · ultra-rare
exomes 25/1,390,392 · genomes 2/152,276 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0216% | 4,626 |
| Middle Eastern | 0.0175% | 5,720 |
| Remaining individualsnot grpmax-eligible | 0.00169% | 59,298 |
| African / African-American | 0.00137% | 72,976 |
| European (non-Finnish) | 0.00114% | 87,927 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- TAOK2
- Protein
- p.Asp485=
- Coding
- c.1455C>T
- MANE Select
- NM_016151
- dbSNP
- rs749999466
- Type
- single nucleotide variant
- Location
- chr16:29985245 (GRCh38)
- Gene constraint
- LOEUF 0.459 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 67.17
Similar variants
- TAOK2 p.Ala1057Val Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala1062Val Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala1148Thr Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala444Val Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala733Val Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala747Val Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala761Val Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala988Val Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/taok2-p-asp485 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown